DMC Disease (Dyggve-Melchior-Clausen) is a rare genetic syndrome. It results from mutations in the dymeclin gene. It is an inherited disorder. The affected child receives one gene from the father and another from the mother. If one gene is normal and the other one is of disease, then the person becomes the carrier of the disease. There occurs abnormal skeletal development, microcephaly (a small head), intellectual disability,  Read More

A rare and frequently fatal lysosomal storage disorder called galactosylceramide lipidosis causes progressive harm to the nerve system. Galactosylceramide Lipidosis is an autosomal recessive condition marked by abnormal sphingolipid metabolism. The protective covering (myelin sheath) of neurons in the brain and throughout the nervous system is destroyed by this hereditary illness. It typically appears before the age of six mon  Read More

A rare autosomal recessive lysosomal storage condition called galactosylceramidase deficiency is brought on by a lack of galactocerebrosidase. Galactocerebrosidase deficiency is a rare autosomal recessive condition brought on by a lack of the enzyme (GALC, also known as galactosylceramidase). The liposomal hydrolysis of galactolipids produced during white matter myelination is carried out by the enzyme galactocere  Read More

A rare and frequently fatal lysosomal storage disorder called galactosylceramide lipidosis causes progressive harm to the nerve system. Galactosylceramide Lipidosis is an autosomal recessive condition marked by abnormal sphingolipid metabolism. The protective covering (myelin sheath) of neurons in the brain and throughout the nervous system is destroyed by this hereditary illness. It typically appears before the age of six mon  Read More

An uncommon genetic degenerative illness of the central and peripheral nervous systems is known as globoid cell leukoencephalopathy. It is distinguished by the presence of globoid cells (cells with many nuclei), the breakdown of the myelin sheath that protects nerves, and the death of brain cells. These illnesses result in a severe decline in mental and motor abilities and affect the formation or development of th  Read More

Normal breathing is impaired by Haddad syndrome, a condition. People with this illness frequently hyperventilate while sleeping, which causes a deficiency in oxygen and an accumulation of carbon dioxide in the blood. The autonomic nervous system, which regulates unconscious bodily functions, would typically respond to such an imbalance by causing the person to wake up or breathe deeply. People with Haddad syndrome  Read More

Niemann-Pick disease (NPD) is a group of rare inherited disorders of fat metabolism. At least five types of Niemann-Pick disease have been identified (NPD types A, B, C, D, and E). Symptoms of types A and B occur as a result of a deficiency of the enzyme acid sphingomyelinase (ASM), which is needed to break down sphingomyelin, a fatty substance found mostly in the brain and nervous system. This deficiency results in abnormal accumulation of ex  Read More

A high level of glycine in the body leads to a condition called nonketotic hyperglycinemia that primarily affects the nervous system. The disease onset occurs a few months after birth and has two forms: attenuated and severe. Early signs and symptoms are lethargy (which worsens over time and can lead to coma), life-threatening breathing difficulties, and weak muscle tone. The children who survive the early symptoms such as fee  Read More

Prader-Willi syndrome (PWS) is a genetic multisystem disorder characterized during infancy by lethargy, diminished muscle tone (hypotonia), feeding difficulties, and poor weight gain. In childhood, features of this disorder include short stature, small genitals and an excessive appetite because affected individuals do not feel satisfied after completing a mean (satiety). Without intervention, this can lead to overeating and the gradual onset o  Read More

Prader-Willi syndrome (PWS) is a genetic multisystem disorder characterized during infancy by lethargy, diminished muscle tone (hypotonia), feeding difficulties, and poor weight gain. In childhood, features of this disorder include short stature, small genitals and an excessive appetite because affected individuals do not feel satisfied after completing a mean (satiety). Without intervention, this can lead to overeating and the gradual onset o  Read More